VACTERL phenotype with mosaic trisomy 5 and uniparental disomy 5-Reference-Cited by-同舟云学术

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VACTERL phenotype with mosaic trisomy 5 and uniparental disomy 5

Published:2017-12-18 Issue:2 Volume:176 Page:502-504
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Hwang Samuel¹,Rudd Mary Katharine²,Finch Lisa³,Peterson Suzanne E.⁴,Kapur Raj P.⁵^ORCID

Affiliation:

1. Department of PathologyOregon Health & Science UniversityPortlandOregon

2. Center for Molecular Biology and PathologyLaboratory Corporation of America HoldingsResearch Triangle ParkNorth Carolina

3. Seattle UltrasoundObstetrix Medical GroupSeattleWashington

4. Maternal Fetal MedicineSwedish Medical CenterSeattleWashington

5. Department of PathologyUniversity of Washington and Seattle Children's HospitalSeattleWashington

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38579

Reference6 articles.

1. A catalogue of imprinted genes and parent-of-origin effects in humans and animals

2. Absence of Imprinting in U2AFBPL, a Human Homologue of the Imprinted Mouse GeneU2afbp-rs

3. A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies

4. NAD Deficiency, Congenital Malformations, and Niacin Supplementation

5. VACTERL/VATER Association

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mosaic trisomy 5 in amniotic fluid in a live fetus with Ebstein anomaly and complete trisomy 5 in chorionic villus sampling;BMJ Case Reports;2023-12

2. Mosaicism in rare disease;Genomics of Rare Diseases;2021

3. Prenatal diagnosis of maternal uniparental disomy 5 by amniocentesis associated with confined placental mosaicism for trisomy 5 and fetal trisomy 21 in a pregnancy;Taiwanese Journal of Obstetrics and Gynecology;2020-11

4. Prenatal Diagnosis of Fetal Trisomy 5 Mosaicism with Congenital Pulmonary Airway Malformation Type 3: A Case Report;Fetal and Pediatric Pathology;2020-10-14

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